cell and disease definitions

Question 1

what is a genetic disease?

Answer 1

a disease that occurs primarily from a genetic abnormality

Question 2

what is an inherited disease?

Answer 2

disease that is caused by an inherited genetic abnormality

Question 3

what is a single gene disorder?

Answer 3

when an abnormality of a single gene causes a disease (dominant, recessive, autosomal ,sex linked)

Question 4

give an example of a single gene disorder and what is the gene involved?

Answer 4

sickle cell anaemia,

caused by a point mutation in the beta-globin chain of haemoglobin

so it always produces an abnormal haemoglobin which causes red blood cells to deform when oxygen saturation is low.

Question 5

what is a Polygenic gene disorder?

Answer 5

a genetic disease which is the result of the interaction of several different genes (usually on different chromosomes).

eg. breast cancer

Question 6

what is a congenital disease?

Answer 6

a disease someone is born with

can be genetic or acquired

Question 7

what is an acquired disease?

Answer 7

caused by non-genetic environmental factors

Question 8

name the 2 processes that cause increased growth?

Answer 8

• hypertrophy
• hyperplasia

Question 9

define hypertrophy

Answer 9

increase in size of a tissue cause by an increase in size of the constituent cells

Question 10

define hyperplasia

Answer 10

increase in size of a tissue caused by an increase in number of the constituent cells

Question 11

define atrophy

Answer 11

decrease in size of a tissue caused by a decrease in number of the constituent cells or a decrease in their size

Question 12

define metaplasia

Answer 12

change in differentiation of a cell from one fully-differentiated type to a different fully-differentiated type

(the reversible transformation of one mature cell type into another fully differentiated cell type within a tissue).

Question 13

define dysplasia

Answer 13

an imprecise term for the morphological changes seen in cells in the progression to becoming cancer

(a premalignant condition characterised by increased growth, cellular atypia and decreased differentiation).

“A term used to describe the presence of abnormal cells within a tissue or organ. Dysplasia is not cancer, but it may sometimes become cancer.”

Question 14

give example of a congenital and acquired disease

Answer 14

club foot, foetal alcohol syndrome

Question 15

give an example of metaplasia

Answer 15

Ciliated columnar epithelium die off if you smoke

They change from ciliated to squamous

Question 16

give an example of hyperplasia

Answer 16

Benign prostate hyperplasia BPH

Question 17

give an example of a disease with atrophy

Answer 17

dementia - atrophy of the brain